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Biomedical subjects

L M Ambani

Publications and source records attributed to L M Ambani.

At least 37 records · Page 2Linked to original sources
PubMed1981

Cytogenetic studies in a selected group of mentally retarded children.

Chromosomal abnormalities are an important cause of mental retardation. We studied the frequency of karyotype abnormalities in 74 mentally retarded patients selected from 306 patients referred to our clinic. Giemsa-banding was done on all cases. Additional studies in abnormal cases included autoradiography and X and Y chromatin. Karyotype analyses and blood group (Xg and Duffy) studies were carried out in family members in some cases. Fourteen of these children had chromosomal abnormalities, seven sex chromosomal, and seven had autosomal abnormalities. Three patients had 45,X and one had a 45,X/46,Xr(X) karyotype. Other sex chromosomal abnormalities were 46,XX/48,XXXX; 48,XXXY/49,XXXXY; and 48,XXYY. Autosomal abnormalities were 46,XX,1q-; 46,XY,2q-; 46,XY,5p-; 46,XY,dup(5p); 45,XX,t(13,14); and 46,XY,17p-. This is the first report from India of cytogenetic abnormalities in idiopathic mental retardation. The chromosomal studies in these patients help not only in accurate diagnosis, proper prognosis, and genetic counseling but also in gene localization and in the study of the origin of X-chromosome abnormalities.

Azure Stains↗
PubMed1981

Effects of maternal anti H-Y antibodies on fetal gonadal development.

C57BL/6 inbred female mice preimmunized by serial injections of isogeneic male spleen cells were mated and the effects of the circulating anti H-Y antibodies on the fetal gonads and on their fertility were studied. Female mice receiving injections of saline formed one control group and those given female spleen cells a second control group. The experiment was carried out three times and since observations were similar and reproducible the data of all three sets were pooled. There was no significant change in the birth weights of newborns, total number of conceptions or sex ratio in the study group compared to either of the controls. There was no difference in the mean live birth rate between the study group and both the controls. Although the incidence of stillbirths in the study group was higher than that in both controls the difference was not statistically significant. In the study group there were no histopathological changes in the gonads from female pups compared to ovaries from the controls. In contrast, the gonads of male pups showed mild to severe structural disorganization in the study group, but not in the female spleen cell injected group. In spite of the morphological changes in the testes, the newborn male pups had a normal anogenital distance and testicular descent suggesting that Leydig cell function was normal.

Animals↗
PubMed1980

I-cell disease.

A 6-month-old female infant presented with severe psychomotor retardation, coarse facies, gingival hyperplasia, thick skin, restricted joint movements and radiological features suggestive of the Hurler syndrome. Her urine showed no excess excretion of mucopolysaccharides. I-cell disease was suspected from the onset of clinical features in early infancy, the subsequent progress and the absence of mucopolysacchariduria. Marked elevation of the activity in serum of three lysosomal enzymes confirmed the diagnosis. This patient had repeated convulsions, a feature not previously reported in this condition. This is the first case report of I-cell disease from India.

Acetylglucosaminidase↗
PubMed1980

Trisomy 18q: 46,XX,13q+,t(13;18)(q32;q11) in a newborn associated with multiple congenital anomalies due to paternal reciprocal translocation, 46,XY,-13,+der(13),t(13;18)(q32;q11).

A 20-day-old female neonate presented with multiple congenital anomalies, convulsions and failure to thrive. Karyotype analysis of the proposita revealed an unbalanced translocation, 46,XX,13q+,t(13;18)(q32;q11)pat resulting in partial trisomy 18q. Her father and a 5-year-old sister were phenotypically normal, balanced translocation carriers, 46,XY,-13,+der(13),t(13;18)(q32;q11) and 46,XX,-13,+der(13),t(13;18)(q32;q11), respectively. The case presented here is the second liveborn reported with trisomy 18q and is of interest from the point of view of the structural chromosomal aberration resulting in the manifestations of most features of trisomy 18 and some of 13q monosomy. The infant died due to convulsions at the age of 2 months.

Abnormalities, Multiple↗